This relationship is used most often to denote marital status. The various pedigree symbols related to pregnancy, spontaneous abortion, termination of pregnancy, and infertility are also depicted in Table X-1.Ī relationship in a pedigree is depicted by a horizontal line between two individuals. In chromosomal abnormalities the karyotype Opens in new window is placed below the diamond symbol, for example, 46XY.

The diamond symbol on the pedigree can also be used for a transgendered person or persons with congenital disorders of sexual development (e.g., chromosoamal, gonadal, or anatomic). A diamond can also be used when sex of the pregnancy is unknown or noted by placing an n inside. If a female is pregnant, a pregnancy is represented as a box or circle depicting sex of the fetus if known with a letter ‘P’ inside. Table X-1 | Standardized Pedigree Symbols and Relationship Lines Commonly Used in Family History.Įach family member within the pedigree is recorded using the appropriate symbol noted as a square (male) or a circle (female) to depict sex and connect these gender-related symbols, using the appropriates line to each symbol to display the relationship between each member to that of the family. The pedigree should clearly provide information on social and legal relationships (e.g., adoption, divorce), deaths, pregnancy, pregnancy termination, and use of assistive reproductive technologies if applicable (Table X-1). Thus, standardized symbols should always be used when constructing a pedigree.

Use of the pedigree for risk assessment requires the knowledge of standardized human pedigree nomenclature and symbols (Table X-1) important in ensuring consistent history data for interprofessional collaboration and referral and to communicate accurate information to reduce errors in interpretation. The proband, on the other hand, is the affected individual that brings the family to medical attention.Ī pedigree is meaningless if the symbols cannot be interpreted from clinician to clinician. The consultand can be healthy or a person with medical conditions but not currently diagnosed with a condition warranting evaluation. If more than one person (consultands) come to the appointment (such as two sisters), each person should be identified with an arrow on the pedigree. This person is identified on the pedigree by an arrow, so that s/he can be easily identified when referring to the pedigree. The consultand is the individual seeking genetic counseling.

The consultand or proband Opens in new window is one of several standardized terms used when conducting a pedigree that define the individual who is undergoing the family history Opens in new window. The pedigree can serve to clarify any genetic tests that were found to be positive (e.g., autosomal dominant Opens in new window, autosomal recessive Opens in new window, X-linked Opens in new window ), including the carrier status Opens in new window of an individual and whether the status of the individual or family member is asymptomatic or presymptomatic. It also provides a visualization of disease patterns that may exist among multiple members and generations. The pedigree, unlike written information, provides a visual display of the health history of the proband or consultand Opens in new window as well as other family members and includes information from both the maternal and paternal lineage if known. This depiction utilizes a variety of standardized figures that illustrates sex, family relationships, status (alive/deceased), and medical history. The three-generation pedigree provides a graphic depiction or map of how family members are biologically related to each other, from one generation to the next social and legal relationships can also be shown (e.g., adoption and divorce).

therapeutics for osteogenesis imperfecta.

Example genogram 3 generations